SNP Links for Nucleotide (Select 56237017) - SNP - NCBI

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Links from Nucleotide

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Select item 14866437231.

rs1486643723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:75095596 (GRCh38)
10:76855354 (GRCh37)
Canonical SPDI:: NC_000010.11:75095595:C:T
Gene:: DUSP13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.75095596C>T, NC_000010.10:g.76855354C>T, NG_033976.1:g.18617G>A, NM_016364.3:c.373G>A, NM_001007271.2:c.*681G>A, NM_001007271.1:c.*681G>A, NM_001320842.2:c.652G>A, NM_001320842.1:c.652G>A, NM_001363514.2:c.781G>A, NM_001363514.1:c.781G>A, NM_001007273.2:c.652G>A, NM_001007273.1:c.652G>A, NM_001320843.2:c.373G>A, NM_001320843.1:c.373G>A, NM_001007272.2:c.523G>A, NM_001007272.1:c.523G>A, XM_005269883.4:c.1030G>A, XM_005269883.3:c.1030G>A, XM_005269883.2:c.1030G>A, XM_005269883.1:c.1030G>A, XM_011539855.3:c.373G>A, XM_011539855.2:c.373G>A, XM_011539855.1:c.373G>A, NM_001007274.1:c.*539G>A, NM_001007275.1:c.*435G>A, XM_047425305.1:c.373G>A, XM_047425308.1:c.373G>A, XM_047425306.1:c.373G>A, NP_057448.3:p.Ala125Thr, NP_001307771.1:p.Ala218Thr, NP_001350443.1:p.Ala261Thr, NP_001007274.1:p.Ala218Thr, NP_001307772.1:p.Ala125Thr, NP_001007273.1:p.Ala175Thr, XP_005269940.1:p.Ala344Thr, XP_011538157.1:p.Ala125Thr, XP_047281261.1:p.Ala125Thr, XP_047281264.1:p.Ala125Thr, XP_047281262.1:p.Ala125Thr

Select item 14737773702.

rs1473777370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:75095576 (GRCh38)
10:76855334 (GRCh37)
Canonical SPDI:: NC_000010.11:75095575:T:C
Gene:: DUSP13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.75095576T>C, NC_000010.10:g.76855334T>C, NG_033976.1:g.18637A>G, NM_016364.3:c.393A>G, NM_001007271.2:c.*701A>G, NM_001007271.1:c.*701A>G, NM_001320842.2:c.672A>G, NM_001320842.1:c.672A>G, NM_001363514.2:c.801A>G, NM_001363514.1:c.801A>G, NM_001007273.2:c.672A>G, NM_001007273.1:c.672A>G, NM_001320843.2:c.393A>G, NM_001320843.1:c.393A>G, NM_001007272.2:c.543A>G, NM_001007272.1:c.543A>G, XM_005269883.4:c.1050A>G, XM_005269883.3:c.1050A>G, XM_005269883.2:c.1050A>G, XM_005269883.1:c.1050A>G, XM_011539855.3:c.393A>G, XM_011539855.2:c.393A>G, XM_011539855.1:c.393A>G, NM_001007274.1:c.*559A>G, NM_001007275.1:c.*455A>G, XM_047425305.1:c.393A>G, XM_047425308.1:c.393A>G, XM_047425306.1:c.393A>G

Select item 14629619873.

rs1462961987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:75095710 (GRCh38)
10:76855468 (GRCh37)
Canonical SPDI:: NC_000010.11:75095709:T:C
Gene:: DUSP13 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.75095710T>C, NC_000010.10:g.76855468T>C, NG_033976.1:g.18503A>G, NM_016364.3:c.259A>G, NM_001007271.2:c.*567A>G, NM_001007271.1:c.*567A>G, NM_001320842.2:c.538A>G, NM_001320842.1:c.538A>G, NM_001363514.2:c.667A>G, NM_001363514.1:c.667A>G, NM_001007273.2:c.538A>G, NM_001007273.1:c.538A>G, NM_001320843.2:c.259A>G, NM_001320843.1:c.259A>G, NM_001007272.2:c.409A>G, NM_001007272.1:c.409A>G, XM_005269883.4:c.916A>G, XM_005269883.3:c.916A>G, XM_005269883.2:c.916A>G, XM_005269883.1:c.916A>G, XM_011539855.3:c.259A>G, XM_011539855.2:c.259A>G, XM_011539855.1:c.259A>G, NM_001007274.1:c.*425A>G, NM_001007275.1:c.*321A>G, XM_047425305.1:c.259A>G, XM_047425308.1:c.259A>G, XM_047425306.1:c.259A>G, NP_057448.3:p.Thr87Ala, NP_001307771.1:p.Thr180Ala, NP_001350443.1:p.Thr223Ala, NP_001007274.1:p.Thr180Ala, NP_001307772.1:p.Thr87Ala, NP_001007273.1:p.Thr137Ala, XP_005269940.1:p.Thr306Ala, XP_011538157.1:p.Thr87Ala, XP_047281261.1:p.Thr87Ala, XP_047281264.1:p.Thr87Ala, XP_047281262.1:p.Thr87Ala

Select item 14594699634.

rs1459469963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:75097843 (GRCh38)
10:76857601 (GRCh37)
Canonical SPDI:: NC_000010.11:75097842:G:A
Gene:: DUSP13 (Varview), SAMD8 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.75097843G>A, NC_000010.10:g.76857601G>A, NG_033976.1:g.16370C>T, NM_016364.3:c.42C>T, NM_001007271.2:c.*350C>T, NM_001007271.1:c.*350C>T, NM_001320842.2:c.321C>T, NM_001320842.1:c.321C>T, NM_001363514.2:c.450C>T, NM_001363514.1:c.450C>T, NM_001007273.2:c.321C>T, NM_001007273.1:c.321C>T, NM_001320843.2:c.42C>T, NM_001320843.1:c.42C>T, NM_001007272.2:c.192C>T, NM_001007272.1:c.192C>T, XM_005269883.4:c.699C>T, XM_005269883.3:c.699C>T, XM_005269883.2:c.699C>T, XM_005269883.1:c.699C>T, XM_011539855.3:c.42C>T, XM_011539855.2:c.42C>T, XM_011539855.1:c.42C>T, NM_001007274.1:c.*208C>T, NM_001007275.1:c.*104C>T, XM_047425305.1:c.42C>T, XM_047425308.1:c.42C>T, XM_047425306.1:c.42C>T

Select item 14565616335.

rs1456561633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:75094582 (GRCh38)
10:76854340 (GRCh37)
Canonical SPDI:: NC_000010.11:75094581:A:C,NC_000010.11:75094581:A:T
Gene:: DUSP13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.75094582A>C, NC_000010.11:g.75094582A>T, NC_000010.10:g.76854340A>C, NC_000010.10:g.76854340A>T, NG_033976.1:g.19631T>G, NG_033976.1:g.19631T>A, NM_016364.3:c.*94T>G, NM_016364.3:c.*94T>A, NM_001007271.2:c.*999T>G, NM_001007271.2:c.*999T>A, NM_001007271.1:c.*999T>G, NM_001007271.1:c.*999T>A, NM_001320842.2:c.*94T>G, NM_001320842.2:c.*94T>A, NM_001320842.1:c.*94T>G, NM_001320842.1:c.*94T>A, NM_001363514.2:c.*94T>G, NM_001363514.2:c.*94T>A, NM_001363514.1:c.*94T>G, NM_001363514.1:c.*94T>A, NM_001007273.2:c.*94T>G, NM_001007273.2:c.*94T>A, NM_001007273.1:c.*94T>G, NM_001007273.1:c.*94T>A, NM_001320843.2:c.*94T>G, NM_001320843.2:c.*94T>A, NM_001320843.1:c.*94T>G, NM_001320843.1:c.*94T>A, NM_001007272.2:c.*94T>G, NM_001007272.2:c.*94T>A, NM_001007272.1:c.*94T>G, NM_001007272.1:c.*94T>A, XM_005269883.4:c.*94T>G, XM_005269883.4:c.*94T>A, XM_005269883.3:c.*94T>G, XM_005269883.3:c.*94T>A, XM_005269883.2:c.*94T>G, XM_005269883.2:c.*94T>A, XM_005269883.1:c.*94T>G, XM_005269883.1:c.*94T>A, XM_011539855.3:c.*94T>G, XM_011539855.3:c.*94T>A, XM_011539855.2:c.*94T>G, XM_011539855.2:c.*94T>A, XM_011539855.1:c.*94T>G, XM_011539855.1:c.*94T>A, NM_001007274.1:c.*857T>G, NM_001007274.1:c.*857T>A, NM_001007275.1:c.*753T>G, NM_001007275.1:c.*753T>A, XM_047425305.1:c.*94T>G, XM_047425305.1:c.*94T>A, XM_047425308.1:c.*94T>G, XM_047425308.1:c.*94T>A, XM_047425306.1:c.*94T>G, XM_047425306.1:c.*94T>A

Select item 14536982216.

rs1453698221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:75097881 (GRCh38)
10:76857639 (GRCh37)
Canonical SPDI:: NC_000010.11:75097880:C:T
Gene:: DUSP13 (Varview), SAMD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.75097881C>T, NC_000010.10:g.76857639C>T, NG_033976.1:g.16332G>A, NM_016364.3:c.4G>A, NM_001007271.2:c.*312G>A, NM_001007271.1:c.*312G>A, NM_001320842.2:c.283G>A, NM_001320842.1:c.283G>A, NM_001363514.2:c.412G>A, NM_001363514.1:c.412G>A, NM_001007273.2:c.283G>A, NM_001007273.1:c.283G>A, NM_001320843.2:c.4G>A, NM_001320843.1:c.4G>A, NM_001007272.2:c.154G>A, NM_001007272.1:c.154G>A, XM_005269883.4:c.661G>A, XM_005269883.3:c.661G>A, XM_005269883.2:c.661G>A, XM_005269883.1:c.661G>A, XM_011539855.3:c.4G>A, XM_011539855.2:c.4G>A, XM_011539855.1:c.4G>A, NM_001007274.1:c.*170G>A, NM_001007275.1:c.*66G>A, XM_047425305.1:c.4G>A, XM_047425308.1:c.4G>A, XM_047425306.1:c.4G>A, NP_057448.3:p.Asp2Asn, NP_001307771.1:p.Asp95Asn, NP_001350443.1:p.Asp138Asn, NP_001007274.1:p.Asp95Asn, NP_001307772.1:p.Asp2Asn, NP_001007273.1:p.Asp52Asn, XP_005269940.1:p.Asp221Asn, XP_011538157.1:p.Asp2Asn, XP_047281261.1:p.Asp2Asn, XP_047281264.1:p.Asp2Asn, XP_047281262.1:p.Asp2Asn

Select item 14531677447.

rs1453167744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:75094819 (GRCh38)
10:76854577 (GRCh37)
Canonical SPDI:: NC_000010.11:75094818:A:G
Gene:: DUSP13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.75094819A>G, NC_000010.10:g.76854577A>G, NG_033976.1:g.19394T>C, NM_016364.3:c.454T>C, NM_001007271.2:c.*762T>C, NM_001007271.1:c.*762T>C, NM_001320842.2:c.733T>C, NM_001320842.1:c.733T>C, NM_001363514.2:c.862T>C, NM_001363514.1:c.862T>C, NM_001007273.2:c.733T>C, NM_001007273.1:c.733T>C, NM_001320843.2:c.454T>C, NM_001320843.1:c.454T>C, NM_001007272.2:c.604T>C, NM_001007272.1:c.604T>C, XM_005269883.4:c.1111T>C, XM_005269883.3:c.1111T>C, XM_005269883.2:c.1111T>C, XM_005269883.1:c.1111T>C, XM_011539855.3:c.454T>C, XM_011539855.2:c.454T>C, XM_011539855.1:c.454T>C, NM_001007274.1:c.*620T>C, NM_001007275.1:c.*516T>C, XM_047425305.1:c.454T>C, XM_047425308.1:c.454T>C, XM_047425306.1:c.454T>C, NP_057448.3:p.Phe152Leu, NP_001307771.1:p.Phe245Leu, NP_001350443.1:p.Phe288Leu, NP_001007274.1:p.Phe245Leu, NP_001307772.1:p.Phe152Leu, NP_001007273.1:p.Phe202Leu, XP_005269940.1:p.Phe371Leu, XP_011538157.1:p.Phe152Leu, XP_047281261.1:p.Phe152Leu, XP_047281264.1:p.Phe152Leu, XP_047281262.1:p.Phe152Leu

Select item 14498190048.

rs1449819004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:75095788 (GRCh38)
10:76855546 (GRCh37)
Canonical SPDI:: NC_000010.11:75095787:C:T
Gene:: DUSP13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
HGVS:: NC_000010.11:g.75095788C>T, NC_000010.10:g.76855546C>T, NG_033976.1:g.18425G>A, NM_016364.3:c.181G>A, NM_001007271.2:c.*489G>A, NM_001007271.1:c.*489G>A, NM_001320842.2:c.460G>A, NM_001320842.1:c.460G>A, NM_001363514.2:c.589G>A, NM_001363514.1:c.589G>A, NM_001007273.2:c.460G>A, NM_001007273.1:c.460G>A, NM_001320843.2:c.181G>A, NM_001320843.1:c.181G>A, NM_001007272.2:c.331G>A, NM_001007272.1:c.331G>A, XM_005269883.4:c.838G>A, XM_005269883.3:c.838G>A, XM_005269883.2:c.838G>A, XM_005269883.1:c.838G>A, XM_011539855.3:c.181G>A, XM_011539855.2:c.181G>A, XM_011539855.1:c.181G>A, NM_001007274.1:c.*347G>A, NM_001007275.1:c.*243G>A, XM_047425305.1:c.181G>A, XM_047425308.1:c.181G>A, XM_047425306.1:c.181G>A, NP_057448.3:p.Ala61Thr, NP_001307771.1:p.Ala154Thr, NP_001350443.1:p.Ala197Thr, NP_001007274.1:p.Ala154Thr, NP_001307772.1:p.Ala61Thr, NP_001007273.1:p.Ala111Thr, XP_005269940.1:p.Ala280Thr, XP_011538157.1:p.Ala61Thr, XP_047281261.1:p.Ala61Thr, XP_047281264.1:p.Ala61Thr, XP_047281262.1:p.Ala61Thr

Select item 14419695329.

rs1441969532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:75097793 (GRCh38)
10:76857551 (GRCh37)
Canonical SPDI:: NC_000010.11:75097792:A:T
Gene:: DUSP13 (Varview), SAMD8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.75097793A>T, NC_000010.10:g.76857551A>T, NG_033976.1:g.16420T>A, NM_016364.3:c.92T>A, NM_001007271.2:c.*400T>A, NM_001007271.1:c.*400T>A, NM_001320842.2:c.371T>A, NM_001320842.1:c.371T>A, NM_001363514.2:c.500T>A, NM_001363514.1:c.500T>A, NM_001007273.2:c.371T>A, NM_001007273.1:c.371T>A, NM_001320843.2:c.92T>A, NM_001320843.1:c.92T>A, NM_001007272.2:c.242T>A, NM_001007272.1:c.242T>A, XM_005269883.4:c.749T>A, XM_005269883.3:c.749T>A, XM_005269883.2:c.749T>A, XM_005269883.1:c.749T>A, XM_011539855.3:c.92T>A, XM_011539855.2:c.92T>A, XM_011539855.1:c.92T>A, NM_001007274.1:c.*258T>A, NM_001007275.1:c.*154T>A, XM_047425305.1:c.92T>A, XM_047425308.1:c.92T>A, XM_047425306.1:c.92T>A, NP_057448.3:p.Leu31Gln, NP_001307771.1:p.Leu124Gln, NP_001350443.1:p.Leu167Gln, NP_001007274.1:p.Leu124Gln, NP_001307772.1:p.Leu31Gln, NP_001007273.1:p.Leu81Gln, XP_005269940.1:p.Leu250Gln, XP_011538157.1:p.Leu31Gln, XP_047281261.1:p.Leu31Gln, XP_047281264.1:p.Leu31Gln, XP_047281262.1:p.Leu31Gln

Select item 144124520610.

rs1441245206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:75094523 (GRCh38)
10:76854281 (GRCh37)
Canonical SPDI:: NC_000010.11:75094522:G:T
Gene:: DUSP13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.75094523G>T, NC_000010.10:g.76854281G>T, NG_033976.1:g.19690C>A, NM_016364.3:c.*153C>A, NM_001007271.2:c.*1058C>A, NM_001007271.1:c.*1058C>A, NM_001320842.2:c.*153C>A, NM_001320842.1:c.*153C>A, NM_001363514.2:c.*153C>A, NM_001363514.1:c.*153C>A, NM_001007273.2:c.*153C>A, NM_001007273.1:c.*153C>A, NM_001320843.2:c.*153C>A, NM_001320843.1:c.*153C>A, NM_001007272.2:c.*153C>A, NM_001007272.1:c.*153C>A, XM_005269883.4:c.*153C>A, XM_005269883.3:c.*153C>A, XM_005269883.2:c.*153C>A, XM_005269883.1:c.*153C>A, XM_011539855.3:c.*153C>A, XM_011539855.2:c.*153C>A, XM_011539855.1:c.*153C>A, NM_001007274.1:c.*916C>A, NM_001007275.1:c.*812C>A, XM_047425305.1:c.*153C>A, XM_047425308.1:c.*153C>A, XM_047425306.1:c.*153C>A

Select item 143745863611.

rs1437458636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:75099434 (GRCh38)
10:76859192 (GRCh37)
Canonical SPDI:: NC_000010.11:75099433:G:C
Gene:: DUSP13 (Varview), SAMD8 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.75099434G>C, NC_000010.10:g.76859192G>C, NG_033976.1:g.14779C>G, NM_016364.3:c.-7C>G, NM_001363514.2:c.4C>G, NM_001363514.1:c.4C>G, NP_001350443.1:p.Pro2Ala

Select item 143412757612.

rs1434127576 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:75097761 (GRCh38)
10:76857520 (GRCh37)
Canonical SPDI:: NC_000010.11:75097761:GG:GGG
Gene:: DUSP13 (Varview), SAMD8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.75097763dup, NC_000010.10:g.76857521dup, NG_033976.1:g.16451dup, NM_016364.3:c.123dup, NM_001007271.2:c.*431dup, NM_001007271.1:c.*431dup, NM_001320842.2:c.402dup, NM_001320842.1:c.402dup, NM_001363514.2:c.531dup, NM_001363514.1:c.531dup, NM_001007273.2:c.402dup, NM_001007273.1:c.402dup, NM_001320843.2:c.123dup, NM_001320843.1:c.123dup, NM_001007272.2:c.273dup, NM_001007272.1:c.273dup, XM_005269883.4:c.780dup, XM_005269883.3:c.780dup, XM_005269883.2:c.780dup, XM_005269883.1:c.780dup, XM_011539855.3:c.123dup, XM_011539855.2:c.123dup, XM_011539855.1:c.123dup, NM_001007274.1:c.*289dup, NM_001007275.1:c.*185dup, XM_047425305.1:c.123dup, XM_047425308.1:c.123dup, XM_047425306.1:c.123dup, NP_057448.3:p.Thr42fs, NP_001307771.1:p.Thr135fs, NP_001350443.1:p.Thr178fs, NP_001007274.1:p.Thr135fs, NP_001307772.1:p.Thr42fs, NP_001007273.1:p.Thr92fs, XP_005269940.1:p.Thr261fs, XP_011538157.1:p.Thr42fs, XP_047281261.1:p.Thr42fs, XP_047281264.1:p.Thr42fs, XP_047281262.1:p.Thr42fs

Select item 143410852013.

rs1434108520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:75094585 (GRCh38)
10:76854343 (GRCh37)
Canonical SPDI:: NC_000010.11:75094584:T:C,NC_000010.11:75094584:T:G
Gene:: DUSP13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.75094585T>C, NC_000010.11:g.75094585T>G, NC_000010.10:g.76854343T>C, NC_000010.10:g.76854343T>G, NG_033976.1:g.19628A>G, NG_033976.1:g.19628A>C, NM_016364.3:c.*91A>G, NM_016364.3:c.*91A>C, NM_001007271.2:c.*996A>G, NM_001007271.2:c.*996A>C, NM_001007271.1:c.*996A>G, NM_001007271.1:c.*996A>C, NM_001320842.2:c.*91A>G, NM_001320842.2:c.*91A>C, NM_001320842.1:c.*91A>G, NM_001320842.1:c.*91A>C, NM_001363514.2:c.*91A>G, NM_001363514.2:c.*91A>C, NM_001363514.1:c.*91A>G, NM_001363514.1:c.*91A>C, NM_001007273.2:c.*91A>G, NM_001007273.2:c.*91A>C, NM_001007273.1:c.*91A>G, NM_001007273.1:c.*91A>C, NM_001320843.2:c.*91A>G, NM_001320843.2:c.*91A>C, NM_001320843.1:c.*91A>G, NM_001320843.1:c.*91A>C, NM_001007272.2:c.*91A>G, NM_001007272.2:c.*91A>C, NM_001007272.1:c.*91A>G, NM_001007272.1:c.*91A>C, XM_005269883.4:c.*91A>G, XM_005269883.4:c.*91A>C, XM_005269883.3:c.*91A>G, XM_005269883.3:c.*91A>C, XM_005269883.2:c.*91A>G, XM_005269883.2:c.*91A>C, XM_005269883.1:c.*91A>G, XM_005269883.1:c.*91A>C, XM_011539855.3:c.*91A>G, XM_011539855.3:c.*91A>C, XM_011539855.2:c.*91A>G, XM_011539855.2:c.*91A>C, XM_011539855.1:c.*91A>G, XM_011539855.1:c.*91A>C, NM_001007274.1:c.*854A>G, NM_001007274.1:c.*854A>C, NM_001007275.1:c.*750A>G, NM_001007275.1:c.*750A>C, XM_047425305.1:c.*91A>G, XM_047425305.1:c.*91A>C, XM_047425308.1:c.*91A>G, XM_047425308.1:c.*91A>C, XM_047425306.1:c.*91A>G, XM_047425306.1:c.*91A>C

Select item 141776492414.

rs1417764924 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCAGCTGGATCAGCTT>- [Show Flanks]
Chromosome:: 10:75095757 (GRCh38)
10:76855515 (GRCh37)
Canonical SPDI:: NC_000010.11:75095754:TTCCCAGCTGGATCAGCTT:TT
Gene:: DUSP13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.75095757_75095773del, NC_000010.10:g.76855515_76855531del, NG_033976.1:g.18442_18458del, NM_016364.3:c.198_214del, NM_001007271.2:c.*506_*522del, NM_001007271.1:c.*506_*522del, NM_001320842.2:c.477_493del, NM_001320842.1:c.477_493del, NM_001363514.2:c.606_622del, NM_001363514.1:c.606_622del, NM_001007273.2:c.477_493del, NM_001007273.1:c.477_493del, NM_001320843.2:c.198_214del, NM_001320843.1:c.198_214del, NM_001007272.2:c.348_364del, NM_001007272.1:c.348_364del, XM_005269883.4:c.855_871del, XM_005269883.3:c.855_871del, XM_005269883.2:c.855_871del, XM_005269883.1:c.855_871del, XM_011539855.3:c.198_214del, XM_011539855.2:c.198_214del, XM_011539855.1:c.198_214del, NM_001007274.1:c.*364_*380del, NM_001007275.1:c.*260_*276del, XM_047425305.1:c.198_214del, XM_047425308.1:c.198_214del, XM_047425306.1:c.198_214del, NP_057448.3:p.Lys66fs, NP_001307771.1:p.Lys159fs, NP_001350443.1:p.Lys202fs, NP_001007274.1:p.Lys159fs, NP_001307772.1:p.Lys66fs, NP_001007273.1:p.Lys116fs, XP_005269940.1:p.Lys285fs, XP_011538157.1:p.Lys66fs, XP_047281261.1:p.Lys66fs, XP_047281264.1:p.Lys66fs, XP_047281262.1:p.Lys66fs

Select item 141476928215.

rs1414769282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:75094648 (GRCh38)
10:76854406 (GRCh37)
Canonical SPDI:: NC_000010.11:75094647:G:A
Gene:: DUSP13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.75094648G>A, NC_000010.10:g.76854406G>A, NG_033976.1:g.19565C>T, NM_016364.3:c.*28C>T, NM_001007271.2:c.*933C>T, NM_001007271.1:c.*933C>T, NM_001320842.2:c.*28C>T, NM_001320842.1:c.*28C>T, NM_001363514.2:c.*28C>T, NM_001363514.1:c.*28C>T, NM_001007273.2:c.*28C>T, NM_001007273.1:c.*28C>T, NM_001320843.2:c.*28C>T, NM_001320843.1:c.*28C>T, NM_001007272.2:c.*28C>T, NM_001007272.1:c.*28C>T, XM_005269883.4:c.*28C>T, XM_005269883.3:c.*28C>T, XM_005269883.2:c.*28C>T, XM_005269883.1:c.*28C>T, XM_011539855.3:c.*28C>T, XM_011539855.2:c.*28C>T, XM_011539855.1:c.*28C>T, NM_001007274.1:c.*791C>T, NM_001007275.1:c.*687C>T, XM_047425305.1:c.*28C>T, XM_047425308.1:c.*28C>T, XM_047425306.1:c.*28C>T

Select item 141415691416.

rs1414156914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:75097779 (GRCh38)
10:76857537 (GRCh37)
Canonical SPDI:: NC_000010.11:75097778:A:G
Gene:: DUSP13 (Varview), SAMD8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.75097779A>G, NC_000010.10:g.76857537A>G, NG_033976.1:g.16434T>C, NM_016364.3:c.106T>C, NM_001007271.2:c.*414T>C, NM_001007271.1:c.*414T>C, NM_001320842.2:c.385T>C, NM_001320842.1:c.385T>C, NM_001363514.2:c.514T>C, NM_001363514.1:c.514T>C, NM_001007273.2:c.385T>C, NM_001007273.1:c.385T>C, NM_001320843.2:c.106T>C, NM_001320843.1:c.106T>C, NM_001007272.2:c.256T>C, NM_001007272.1:c.256T>C, XM_005269883.4:c.763T>C, XM_005269883.3:c.763T>C, XM_005269883.2:c.763T>C, XM_005269883.1:c.763T>C, XM_011539855.3:c.106T>C, XM_011539855.2:c.106T>C, XM_011539855.1:c.106T>C, NM_001007274.1:c.*272T>C, NM_001007275.1:c.*168T>C, XM_047425305.1:c.106T>C, XM_047425308.1:c.106T>C, XM_047425306.1:c.106T>C, NP_057448.3:p.Trp36Arg, NP_001307771.1:p.Trp129Arg, NP_001350443.1:p.Trp172Arg, NP_001007274.1:p.Trp129Arg, NP_001307772.1:p.Trp36Arg, NP_001007273.1:p.Trp86Arg, XP_005269940.1:p.Trp255Arg, XP_011538157.1:p.Trp36Arg, XP_047281261.1:p.Trp36Arg, XP_047281264.1:p.Trp36Arg, XP_047281262.1:p.Trp36Arg

Select item 141151227217.

rs1411512272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:75094483 (GRCh38)
10:76854241 (GRCh37)
Canonical SPDI:: NC_000010.11:75094482:T:C
Gene:: DUSP13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.75094483T>C, NC_000010.10:g.76854241T>C, NG_033976.1:g.19730A>G, NM_016364.3:c.*193A>G, NM_001007271.2:c.*1098A>G, NM_001007271.1:c.*1098A>G, NM_001320842.2:c.*193A>G, NM_001320842.1:c.*193A>G, NM_001363514.2:c.*193A>G, NM_001363514.1:c.*193A>G, NM_001007273.2:c.*193A>G, NM_001007273.1:c.*193A>G, NM_001320843.2:c.*193A>G, NM_001320843.1:c.*193A>G, NM_001007272.2:c.*193A>G, NM_001007272.1:c.*193A>G, XM_005269883.4:c.*193A>G, XM_005269883.3:c.*193A>G, XM_005269883.2:c.*193A>G, XM_005269883.1:c.*193A>G, XM_011539855.3:c.*193A>G, XM_011539855.2:c.*193A>G, XM_011539855.1:c.*193A>G, NM_001007274.1:c.*956A>G, NM_001007275.1:c.*852A>G, XM_047425305.1:c.*193A>G, XM_047425308.1:c.*193A>G, XM_047425306.1:c.*193A>G

Select item 140910242218.

rs1409102422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:75097716 (GRCh38)
10:76857474 (GRCh37)
Canonical SPDI:: NC_000010.11:75097715:C:T
Gene:: DUSP13 (Varview), SAMD8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.75097716C>T, NC_000010.10:g.76857474C>T, NG_033976.1:g.16497G>A, NM_016364.3:c.169G>A, NM_001007271.2:c.*477G>A, NM_001007271.1:c.*477G>A, NM_001320842.2:c.448G>A, NM_001320842.1:c.448G>A, NM_001363514.2:c.577G>A, NM_001363514.1:c.577G>A, NM_001007273.2:c.448G>A, NM_001007273.1:c.448G>A, NM_001320843.2:c.169G>A, NM_001320843.1:c.169G>A, NM_001007272.2:c.319G>A, NM_001007272.1:c.319G>A, XM_005269883.4:c.826G>A, XM_005269883.3:c.826G>A, XM_005269883.2:c.826G>A, XM_005269883.1:c.826G>A, XM_011539855.3:c.169G>A, XM_011539855.2:c.169G>A, XM_011539855.1:c.169G>A, NM_001007274.1:c.*335G>A, NM_001007275.1:c.*231G>A, XM_047425305.1:c.169G>A, XM_047425308.1:c.169G>A, XM_047425306.1:c.169G>A, NP_057448.3:p.Asp57Asn, NP_001307771.1:p.Asp150Asn, NP_001350443.1:p.Asp193Asn, NP_001007274.1:p.Asp150Asn, NP_001307772.1:p.Asp57Asn, NP_001007273.1:p.Asp107Asn, XP_005269940.1:p.Asp276Asn, XP_011538157.1:p.Asp57Asn, XP_047281261.1:p.Asp57Asn, XP_047281264.1:p.Asp57Asn, XP_047281262.1:p.Asp57Asn

Select item 140733021519.

rs1407330215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:75094633 (GRCh38)
10:76854391 (GRCh37)
Canonical SPDI:: NC_000010.11:75094632:G:A,NC_000010.11:75094632:G:C
Gene:: DUSP13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.75094633G>A, NC_000010.11:g.75094633G>C, NC_000010.10:g.76854391G>A, NC_000010.10:g.76854391G>C, NG_033976.1:g.19580C>T, NG_033976.1:g.19580C>G, NM_016364.3:c.*43C>T, NM_016364.3:c.*43C>G, NM_001007271.2:c.*948C>T, NM_001007271.2:c.*948C>G, NM_001007271.1:c.*948C>T, NM_001007271.1:c.*948C>G, NM_001320842.2:c.*43C>T, NM_001320842.2:c.*43C>G, NM_001320842.1:c.*43C>T, NM_001320842.1:c.*43C>G, NM_001363514.2:c.*43C>T, NM_001363514.2:c.*43C>G, NM_001363514.1:c.*43C>T, NM_001363514.1:c.*43C>G, NM_001007273.2:c.*43C>T, NM_001007273.2:c.*43C>G, NM_001007273.1:c.*43C>T, NM_001007273.1:c.*43C>G, NM_001320843.2:c.*43C>T, NM_001320843.2:c.*43C>G, NM_001320843.1:c.*43C>T, NM_001320843.1:c.*43C>G, NM_001007272.2:c.*43C>T, NM_001007272.2:c.*43C>G, NM_001007272.1:c.*43C>T, NM_001007272.1:c.*43C>G, XM_005269883.4:c.*43C>T, XM_005269883.4:c.*43C>G, XM_005269883.3:c.*43C>T, XM_005269883.3:c.*43C>G, XM_005269883.2:c.*43C>T, XM_005269883.2:c.*43C>G, XM_005269883.1:c.*43C>T, XM_005269883.1:c.*43C>G, XM_011539855.3:c.*43C>T, XM_011539855.3:c.*43C>G, XM_011539855.2:c.*43C>T, XM_011539855.2:c.*43C>G, XM_011539855.1:c.*43C>T, XM_011539855.1:c.*43C>G, NM_001007274.1:c.*806C>T, NM_001007274.1:c.*806C>G, NM_001007275.1:c.*702C>T, NM_001007275.1:c.*702C>G, XM_047425305.1:c.*43C>T, XM_047425305.1:c.*43C>G, XM_047425308.1:c.*43C>T, XM_047425308.1:c.*43C>G, XM_047425306.1:c.*43C>T, XM_047425306.1:c.*43C>G

Select item 140717245020.

rs1407172450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:75095653 (GRCh38)
10:76855411 (GRCh37)
Canonical SPDI:: NC_000010.11:75095652:C:T
Gene:: DUSP13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.75095653C>T, NC_000010.10:g.76855411C>T, NG_033976.1:g.18560G>A, NM_016364.3:c.316G>A, NM_001007271.2:c.*624G>A, NM_001007271.1:c.*624G>A, NM_001320842.2:c.595G>A, NM_001320842.1:c.595G>A, NM_001363514.2:c.724G>A, NM_001363514.1:c.724G>A, NM_001007273.2:c.595G>A, NM_001007273.1:c.595G>A, NM_001320843.2:c.316G>A, NM_001320843.1:c.316G>A, NM_001007272.2:c.466G>A, NM_001007272.1:c.466G>A, XM_005269883.4:c.973G>A, XM_005269883.3:c.973G>A, XM_005269883.2:c.973G>A, XM_005269883.1:c.973G>A, XM_011539855.3:c.316G>A, XM_011539855.2:c.316G>A, XM_011539855.1:c.316G>A, NM_001007274.1:c.*482G>A, NM_001007275.1:c.*378G>A, XM_047425305.1:c.316G>A, XM_047425308.1:c.316G>A, XM_047425306.1:c.316G>A, NP_057448.3:p.Asp106Asn, NP_001307771.1:p.Asp199Asn, NP_001350443.1:p.Asp242Asn, NP_001007274.1:p.Asp199Asn, NP_001307772.1:p.Asp106Asn, NP_001007273.1:p.Asp156Asn, XP_005269940.1:p.Asp325Asn, XP_011538157.1:p.Asp106Asn, XP_047281261.1:p.Asp106Asn, XP_047281264.1:p.Asp106Asn, XP_047281262.1:p.Asp106Asn

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